Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651990_52651993delinsCCCG , CM000674.2:g.52651990_52651993delinsCCCG | GRCh38 |
| NC_000012.11:g.53045774_53045777delinsCCCG , CM000674.1:g.53045774_53045777delinsCCCG | GRCh37 |
| NC_000012.10:g.51332041_51332044delinsCCCG | NCBI36 |
| NG_008296.1:g.5183_5186delinsCGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.150_153delinsCGGG MANE Select | ENSP00000310861.3:p.Gly50= | |
| ENST00000309680.3:c.150_153delinsCGGG | ENSP00000310861.3:p.Gly50= | |
| NM_000423.2:c.150_153delinsCGGG | NP_000414.2:p.Gly50= | |
| NM_000423.3:c.150_153delinsCGGG MANE Select | NP_000414.2:p.Gly50= |